Childhood cerebral X-linked adrenoleukodystrophy
ICD-10 E71.520 is a billable code used to indicate a diagnosis of childhood cerebral x-linked adrenoleukodystrophy.
Childhood cerebral X-linked adrenoleukodystrophy (CCALD) is a severe neurodegenerative disorder that primarily affects boys and is caused by mutations in the ABCD1 gene located on the X chromosome. This condition is characterized by the accumulation of very long-chain fatty acids (VLCFAs) in the brain and adrenal glands due to a deficiency in the enzyme involved in their metabolism. Clinically, CCALD typically presents in early childhood, often between ages 4 and 8, with symptoms such as behavioral changes, cognitive decline, vision and hearing loss, and progressive motor dysfunction. The disease progresses rapidly, leading to severe disability and often death within a few years of onset. Diagnosis is confirmed through biochemical testing showing elevated VLCFAs and genetic testing for ABCD1 mutations. Early intervention, including potential hematopoietic stem cell transplantation, may improve outcomes, but the prognosis remains poor without treatment. Understanding the genetic basis and metabolic implications of this disorder is crucial for effective management and counseling of affected families.
Detailed clinical history, genetic testing results, and symptom progression.
Diagnosis and management of children presenting with neurological symptoms and behavioral changes.
Need for multidisciplinary approach including neurology, genetics, and metabolic specialists.
Neurological assessments, imaging studies, and follow-up evaluations.
Evaluation of progressive neurological decline in young boys.
Importance of ruling out other neurological disorders and documenting the progression of symptoms.
Used when confirming a diagnosis of CCALD.
Documentation of clinical symptoms and family history.
Genetic counseling may be necessary for families.
The primary cause is a mutation in the ABCD1 gene, which leads to a deficiency in the enzyme responsible for the metabolism of very long-chain fatty acids.
